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T.H. Morgan – 1910 –Working with fruit fly, Drosophila melanogaster –Discovered a mutant male fly with white eyes instead of red –Crossed the mutant male to a normal red-eyed female All F 1 progeny red eyed = dominant trait
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Morgan crossed F 1 females x F 1 males F 2 generation contained red and white- eyed flies –But all white-eyed flies were male Testcross of a F 1 female with a white-eyed male showed the viability of white-eyed females Morgan concluded that the eye color gene resides on the X chromosome Morgan crossed F 1 females x F 1 males F 2 generation contained red and white- eyed flies –But all white-eyed flies were male Testcross of a F 1 female with a white-eyed male showed the viability of white-eyed females Morgan concluded that the eye color gene resides on the X chromosome
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Sex Chromosomes Sex determination in Drosophila is based on the number of X chromosomes –2 X chromosomes = female –1 X and 1 Y chromosome = male Sex determination in humans is based on the presence of a Y chromosome –2 X chromosomes = female –Having a Y chromosome (XY) = male
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Sex-Linked Inherited Traits In many organisms, the Y chromosome is greatly reduced or inactive. genes on the X chromosome are present in only 1 copy in males Sex-linked traits: controlled by genes present on the X chromosome Certain genetic diseases affect males to a greater degree than females –X-linked recessive alleles Red-green color blindness Hemophilia
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Humans have 46 total chromosomes –22 pairs are autosomes –1 pair of sex chromosomes –Y chromosome highly condensed Recessive alleles on male’s X have no active counterpart on Y –“Default” for humans is female Requires SRY gene on Y for “maleness”
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Hemophilia Disease that affects a single protein in a cascade of proteins involved in the formation of blood clots Form of hemophilia is caused by an X-linked recessive allele –heterozygous females are asymptomatic carriers Allele for hemophilia was introduced into a number of different European royal families by Queen Victoria of England
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Dosage Compensation Ensures an equal expression of genes from the sex chromosomes even though females have 2 X chromosomes and males have only 1 In each cell of a female, 1 X chromosome is inactivated and is highly condensed into a Barr body –the other X chromosome provides phenotype Females heterozygous for genes on the X chromosome are genetic mosaics
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Genetic Mapping Early geneticists realized that they could obtain information about the distance between genes on a chromosome Based on genetic recombination (crossing over) between genes If crossover occurs, parental alleles are recombined producing recombinant gametes
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Alfred Sturtevant –Undergraduate in T.H. Morgan’s lab –Put Morgan’s observation that recombinant progeny reflected relevant location of genes in quantitative terms –As physical distance on a chromosome increases, so does the probability of recombination (crossover) occurring between the gene loci
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Constructing Maps The distance between genes is proportional to the frequency of recombination events recombination frequency recombinant progeny total progeny 1% recombination = 1 map unit (m.u.) 1 map unit = 1 centimorgan (cM) =
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